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MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1

Known as: MCCRP1, Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 
An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by… Expand
National Institutes of Health

Papers overview

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2020
2020
ABSTRACT Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly… Expand
2012
2012
Purpose We present a case series of four patients with unilateral, nonprogressive, yellow or white choroidal lesions of unknown… Expand
1985
1985
S FROM "NO TO HATTATSU" VOL. 16, PAGES 309-491,1984 ABSTRACTS FROM "NO TO HATTATSU"S FROM "NO TO HATTATSU" Independent from… Expand
1978
1978
Features of Aicardi's syndrome include infantile spasms associated with pathognomonic chorioretinopathy, abnormalities of the… Expand
1972
1972
A case of Aicardi's syndrome is described. The main features are infantile spasms, pathognomonic chorioretinopathy, evidence of… Expand